What does AAAS mean in SYNDROMES
AAAS stands for Achalasia Addisonianism Alacrima Syndrome, a rare, autosomal recessive disorder caused by a mutation of the PAX6 gene. It is characterized by facial abnormalities, alacrima (absence of tears), hearing loss, skeletal malformations and certain endocrine problems.
AAAS meaning in Syndromes in Medical
AAAS mostly used in an acronym Syndromes in Category Medical that means achalasia addisonianism alacrima syndrome
Shorthand: AAAS,
Full Form: achalasia addisonianism alacrima syndrome
For more information of "achalasia addisonianism alacrima syndrome", see the section below.
Essential Questions and Answers on achalasia addisonianism alacrima syndrome in "MEDICAL»SYNDROMES"
What is AAAS?
AAAS stands for Achalasia Addisonianism Alacrima Syndrome, a rare, autosomal recessive disorder caused by a mutation of the PAX6 gene.
What are the symptoms of AAAS?
Symptoms of AAAS include facial abnormalities, alacrima (absence of tears), hearing loss, skeletal malformations and certain endocrine problems.
Is there a cure for AAAS?
Unfortunately, there is no current cure for AAAS; however, some treatments are available that can help manage symptoms.
How is AAAS diagnosed?
Diagnosis of AAAS typically involves physical examination to assess facial abnormalities and skeletal malformations as well as genetic testing to identify the presence of mutations in the PAX6 gene.
Is AAAS inherited?
Yes, it is an inherited disorder caused by a mutation in the PAX6 gene on chromosome 11 that is passed from parent to child through an autosomal recessive pattern.
Final Words:
While there currently is no known cure for Achalasia Addisonianism Alacrima Syndrome (AAAS), proper management and treatment of symptoms can help improve quality of life for those affected by this rare disorder.
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